Associated Papers
Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.
Perea-Cabrera M et al.
Molecular Genetics & Genomic Medicine, 2023
Exome sequencing improves genetic diagnosis of congenital orofacial clefts.
Yan S et al.
Frontiers in Genetics, 2023
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
Tessier A et al.
Clinical Genetics, 2020
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.
Wild KT et al.
American Journal of Medical Genetics. Part A, 2020
R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome.
Preiksaitiene E et al.
Clinical Dysmorphology, 2015
The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review.
Spinelli M et al.
Case Reports in Obstetrics and Gynecology, 2015
Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease.
Cheng YK et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.
Hsieh EW et al.
American Journal of Medical Genetics. Part A, 2008
MID1 mutations in patients with X-linked Opitz G/BBB syndrome.
Fontanella B et al.
Human Mutation, 2008
X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.
Cho HJ et al.
Journal of Korean Medical Science, 2006
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